Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations

Journal of Clinical Oncology

Volumn 32, Issue 36, 2015, Pages 4155-4161

  Smith, Miriam J ^a   Beetz, Christian ^a   Williams, Simon G ^a   Bhaskar, Sanjeev S ^a   O'Sullivan, James ^a   Anderson, Beverley ^a   Daly, Sarah B ^a   Urquhart, Jill E ^a   Bholah, Zaynab ^a   Oudit, Deemesh ^a   Cheesman, Edmund ^a   Kelsey, Anna ^a   McCabe, Martin G ^a   Newman, William G ^a   Evans, D Gareth R ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PROTEIN PATCHED 1; CELL SURFACE RECEPTOR; PATCHED RECEPTORS; REPRESSOR PROTEIN; SUFU PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; BASAL CELL CARCINOMA; BASAL CELL NEVUS SYNDROME; CANCER CHEMOTHERAPY; CANCER RADIOTHERAPY; CANCER RISK; CHILD; CHILDHOOD CANCER; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXOME; FEMALE; GENE DELETION; GENE DOSAGE; GENETIC RISK; GERMLINE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; JAW CYST; LYMPHOCYTE; MALE; MEDULLOBLASTOMA; MIDDLE AGED; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRESCHOOL CHILD; RNA ANALYSIS; SANGER SEQUENCING; SCHOOL CHILD; SEQUENCE ANALYSIS; SUFU GENE; TUMOR SUPPRESSOR GENE; VERY ELDERLY; YOUNG ADULT; CEREBELLAR NEOPLASMS; GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; RISK;

BASAL CELL NEVUS SYNDROME; CEREBELLAR NEOPLASMS; GERM-LINE MUTATION; HUMANS; MAGNETIC RESONANCE IMAGING; MEDULLOBLASTOMA; RECEPTORS, CELL SURFACE; REPRESSOR PROTEINS; RISK;

EID: 84919767719     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2014.58.2569     Document Type: Article

References (39)

1. Evans DG, Ladusans EJ, Rimmer S, et al: Complications of the naevoid basal cell carcinoma syndrome: Results of a population based study. J Med Genet 30:460-464, 1993
2. Kimonis VE, Goldstein AM, Pastakia B, et al: Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299-308, 1997
3. Shanley S, Ratcliffe J, Hockey A, et al: Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals. Am J Med Genet 50:282-290, 1994
4. Evans DG, Farndon PA, Burnell LD, et al: The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer 64:959-961, 1991
5. Cowan R, Hoban P, Kelsey A, et al: The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma. Br J Cancer 76:141-145, 1997
6. Farndon PA, Del Mastro RG, Evans DG, et al: Location of gene for Gorlin syndrome. Lancet 339: 581-582, 1992
7. Hahn H, Wicking C, Zaphiropoulous PG, et al: Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841-851, 1996
8. Klein RD, Dykas DJ, Bale AE: Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med 7:611-619, 2005
9. Marsh A, Wicking C, Wainwright B, et al: DHPLC analysis of patients with nevoid basal cell carcinoma syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. Hum Mutat 26:283, 2005
10. Soufir N, Gerard B, Portela M, et al: PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: A French study. Br J Cancer 95:548-553, 2006
11. Wicking C, Shanley S, Smyth I, et al: Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet 60:21-26, 1997
12. Jones EA, Sajid MI, Shenton A, et al: Basal cell carcinomas in Gorlin syndrome: A review of 202 patients. J Skin Cancer 2011:217378, 2011
13. Bholah Z, Smith MJ, Byers HJ, et al: Intronic splicing mutations in PTCH1 cause Gorlin syndrome. Fam Cancer [epub ahead of print on March 22, 2014]
14. Bauer P, Stevanin G, Beetz C, et al: Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry 81:1229-1232, 2010
15. Beetz C, Nygren AO, Schickel J, et al: High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 67:1926-1930, 2006
16. Kijima C, Miyashita T, Suzuki M, et al: Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation. Fam Cancer 11:565-570, 2012
17. Schouten JP, McElgunn CJ, Waaijer R, et al: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57, 2002
18. Taylor MD, Liu L, Raffel C, et al: Mutations in SUFU predispose to medulloblastoma. Nat Genet 31:306-310, 2002
19. Choudry Q, Patel HC, Gurusinghe NT, et al: Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: Implications for treatment and surveillance. Childs Nerv Syst 23:133-136, 2007
20. Brugiéres L, Remenieras A, Pierron G, et al: High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. J Clin Oncol 30:2087-2093, 2012
21. Slade I, Murray A, Hanks S, et al: Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. Fam Cancer 10:337-342, 2011
22. Kool M, Jones DT, Jäger N, et al: Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell 25:393-405, 2014
23. Ellison DW, Dalton J, Kocak M, et al: Medulloblastoma: Clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups. Acta Neuropathol 121:381-396, 2011
24. Robinson G, Parker M, Kranenburg TA, et al: Novel mutations target distinct subgroups of medulloblastoma. Nature 488:43-48, 2012
25. Pietsch T, Schmidt R, Remke M, et al: Prognostic significance of clinical, histopathological, and molecular characteristics of medulloblastomas in the prospective HIT2000 multicenter clinical trial cohort. Acta Neuropathol 128:137-149, 2014
26. Pastorino L, Ghiorzo P, Nasti S, et al: Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am J Med Genet A 149A:1539-1543, 2009
27. Evans DG, Farndon PA: Nevoid basal cell carcinoma syndrome, in Pagon RA, Adam MP, Ardinger HH, et al (eds): GeneReviews. Seattle, WA, University of Washington, 1993-2014
28. Suzuki M, Nagao K, Hatsuse H, et al: Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol 116:348-353, 2013
29. Aavikko M, Li SP, Saarinen S, et al: Loss of SUFU function in familial multiple meningioma. Am J Hum Genet 91:520-526, 2012
30. Tang JY, Mackay-Wiggan JM, Aszterbaum M, et al: Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome. N Engl J Med 366:2180-2188, 2012
31. Gajjar A, Stewart CF, Ellison DW, et al: Phase I study of vismodegib in children with recurrent or refractory medulloblastoma: A Pediatric Brain Tumor Consortium study. Clin Cancer Res 19:6305-6312, 2013
32. LoRusso PM, Rudin CM, Reddy JC, et al: Phase I trial of hedgehog pathway inhibitor vismodegib (GDC-0449) in patients with refractory, locally advanced or metastatic solid tumors. Clin Cancer Res 17:2502-2511, 2011
33. Asklund T, Henriksson R, Axelsson J, et al: Early and persisting response to vismodegib in a patient with bone metastasizing medulloblastoma. Acta Oncol 52:862-866, 2013
34. Geoerger B, Aerts I, Casanova M, et al: A phase I/II study of LDE225, a smoothened (Smo) antagonist, in pediatric patients with recurrent medulloblastoma (MB) or other solid tumors. J Clin Oncol 30:610s, 2012 (suppl; abstr 9519)
35. Kim J, Aftab BT, Tang JY, et al: Itraconazole and arsenic trioxide inhibit hedgehog pathway activation and tumor growth associated with acquired resistance to smoothened antagonists. Cancer Cell 23:23-34, 2013
36. Iland HJ, Bradstock K, Supple SG, et al: Alltrans-retinoic acid, idarubicin, and IV arsenic trioxide as initial therapy in acute promyelocytic leukemia (APML4). Blood 120:1570-1580, 2012; quiz 1752
37. Zhu HH, Wu DP, Jin J, et al: Oral tetra-arsenic tetra-sulfide formula versus intravenous arsenic trioxide as first-line treatment of acute promyelocytic leukemia: A multicenter randomized controlled trial. J Clin Oncol 31:4215-4221, 2013
38. Cohen KJ, Gibbs IC, Fisher PG, et al: A phase I trial of arsenic trioxide chemoradiotherapy for infiltrating astrocytomas of childhood. Neuro Oncol 15:783-787, 2013
39. Bree AF, Shah MR: Consensus statement from the first International Colloquium on Basal Cell Nevus Syndrome (BCNS). Am J Med Genet A 155A:2091-2097, 2011